ClinVar Miner

List of variants reported as likely benign for Weissenbacher-Zweymuller syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP
NM_080680.2(COL11A2):c.-241G>A rs533843327
NM_080680.3(COL11A2):c.*119G>A rs183458493
NM_080680.3(COL11A2):c.*128C>G rs528560777
NM_080680.3(COL11A2):c.*4C>T rs186720023
NM_080680.3(COL11A2):c.*706G>T rs548143581
NM_080680.3(COL11A2):c.*822C>G rs536130072
NM_080680.3(COL11A2):c.*925G>A rs117470046
NM_080680.3(COL11A2):c.-200G>A rs144092339
NM_080680.3(COL11A2):c.-82C>G
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=) rs549704545
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys) rs764998691
NM_080680.3(COL11A2):c.1612-10G>C rs182657680
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080680.3(COL11A2):c.1666-11CCT[2] rs147815324
NM_080680.3(COL11A2):c.1774-9C>T rs148243956
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697
NM_080680.3(COL11A2):c.1818+15G>A rs549588854
NM_080680.3(COL11A2):c.1873-14A>G rs149099562
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262
NM_080680.3(COL11A2):c.2215-11A>G rs557236389
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln) rs35765893
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala) rs555936455
NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala) rs548592690
NM_080680.3(COL11A2):c.2757C>T (p.Gly919=) rs34478777
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser) rs141164483
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) rs138380958
NM_080680.3(COL11A2):c.3583-5T>C rs183536190
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825
NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly) rs142962835
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=) rs139283268
NM_080680.3(COL11A2):c.4080G>A (p.Gly1360=) rs537455619
NM_080680.3(COL11A2):c.4265C>T (p.Pro1422Leu) rs555936333
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) rs148262058
NM_080680.3(COL11A2):c.4392+12C>T rs117267045
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu) rs201315111
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=) rs34055850
NM_080680.3(COL11A2):c.4751-9A>G rs555680585
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) rs372250466
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195
NM_080680.3(COL11A2):c.5071-5T>G rs368309085
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) rs568840295
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu) rs201399429

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